ClinVar Miner

Submissions for variant NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)

gnomAD frequency: 0.00005  dbSNP: rs141808601
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689127 SCV000816765 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2022-07-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ABCD4 protein function. ClinVar contains an entry for this variant (Variation ID: 568694). This variant has not been reported in the literature in individuals affected with ABCD4-related conditions. This variant is present in population databases (rs141808601, gnomAD 0.02%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 122 of the ABCD4 protein (p.Leu122Phe).
Fulgent Genetics, Fulgent Genetics RCV000689127 SCV002816953 uncertain significance Methylmalonic acidemia with homocystinuria, type cblJ 2021-07-26 criteria provided, single submitter clinical testing

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